The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction.
CYP21 gene encodes the steroid 21-hydroxylase (P450c21) that is involved in steroidogenesis in the adrenal cortex. Mutations occurring on CYP21 which convert it to the neighboring pseudogene, CYP21P, are found in patients with congenital adrenal hyperplasia (CAH), an autosomal recessive disease. We...
Enregistré dans:
| Publié dans: | Nucleic Acids Res |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
1998
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC147502/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9518489/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/26.8.1959 |
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